| 英文名稱 | Anti-ALS2CR4/FITC |
| 中文名稱 | FITC標記的肌萎縮側索硬化癥相關蛋白4抗體 |
| 別 名 | ALS2CR4 protein, N terminus truncated; Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4; TM237_HUMAN. |
| 說 明 書 | 100ul |
| 研究領域 | 細胞生物 免疫學 |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應 | Human, Mouse, Rat, Pig, Horse, Rabbit, Sheep, |
| 產品應用 | IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 45kDa |
| 細胞定位 | 細胞膜 |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human ALS2CR4 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 儲 存 液 | Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4 |
| 保存條件 | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| 產品介紹 | background:
The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].
Function:
Component of the transition zone in primary cilia. Required for ciliogenesis.
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential). Cell projection, cilium. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.
DISEASE:
Defects in TMEM237 are the cause of Joubert syndrome type 14 (JBTS14) [MIM:614424]. An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable JBTS14 features include renal disease, abnormal eye movements, and postaxial polydactyly.
Similarity:
Belongs to the TMEM237 family.
Database links:
UniProtKB/Swiss-Prot: Q96Q45.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
